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Molecular Genetics & Genomic Medicine|May 31, 2022
Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataractRani Saira Saleem, Sorath Noorani Siddiqui, Saba Irshad, et al.
Molecular Genetics & Genomic Medicine|June 2, 2021
Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndromeJennifer Friedman, Lynne M Bird, Richard Haas, et al.
Molecular Genetics & Genomic Medicine|July 2, 2021
Novel homozygous protein-truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet-Biedl syndromeHai-Yan Tang, Fen Xie, Ru-Chun Dai, et al.
Molecular Genetics & Genomic Medicine|July 2, 2021
Dissecting human trophoblast cell transcriptional heterogeneity in preeclampsia using single-cell RNA sequencingTao Zhang, Qianqian Bian, Yanchun Chen, et al.
Molecular Genetics & Genomic Medicine|June 19, 2021
Landscape of IDH1/2 mutations in Chinese patients with solid tumors: A pan-cancer analysisDong Shen, Junling Zhang, Kai Yuan, et al.
Molecular Genetics & Genomic Medicine|June 10, 2021
A new GNPAT variant of foetal rhizomelic chondrodysplasia punctataAdalgisa Cordisco, Elisabetta Pelo, Mariarosaria Di Tommaso, et al.
Molecular Genetics & Genomic Medicine|March 18, 2020
Identification of key genes and pathways of diagnosis and prognosis in cervical cancer by bioinformatics analysisHua-Ju Yang, Jin-Min Xue, Jie Li, et al.
Molecular Genetics & Genomic Medicine|March 11, 2020
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literatureBertrand Chesneau, Thomas Edouard, Yves Dulac, et al.
Molecular Genetics & Genomic Medicine|March 11, 2020
Novel compound heterozygous stop-gain mutations of LRBA in a Vietnamese patient with Common Variable Immune DeficiencyAnh N L Phan, Thuy T T Pham, Nghia Huynh, et al.
Molecular Genetics & Genomic Medicine|March 13, 2020
Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiencyDeyu Chen, Qiongya Zhao, Jingting Xiong, et al.
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